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Article

Diagnostic exome sequencing identifies a heterozygous MBD5 frameshift mutation in a family with intellectual disability and epilepsy.

European journal of medical genetics - 1 Oct 2017

Han Ji Yoon, Lee In Goo, Jang Woori, Kim Myungshin, Kim Yonggoo, Jang Ja Hyun, Park Joonhong

Abstract excerpt

Methyl-CpG-binding domain 5 (MBD5)-associated neurodevelopmental disorder caused by 2q23.1 or MBD5-specific mutation has been recently identified as a genetic disorder associated with autism spectrum disorders. Phenotypic features of 2q23.1 deletion or disruption of MBD5 gene include severe intellectual disability, seizure, significant speech impairment, sleep disturbance, and autistic-like behavioural problems....

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Source

Identifiers

PMID: 28807762
DOI: 10.1016/j.ejmg.2017.08.003

Genes

MBD5

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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